Literature DB >> 16887426

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference.

Meral Gunay-Aygun1, Ellis D Avner, Robert L Bacallao, Peter L Choyke, Joseph T Flynn, Gregory G Germino, Lisa Guay-Woodford, Peter Harris, Theo Heller, Julie Ingelfinger, Frederick Kaskel, Robert Kleta, Nicholas F LaRusso, Parvathi Mohan, Gregory J Pazour, Benjamin L Shneider, Vicente E Torres, Patricia Wilson, Colleen Zak, Jing Zhou, William A Gahl.   

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Year:  2006        PMID: 16887426      PMCID: PMC2918414          DOI: 10.1016/j.jpeds.2006.03.014

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  34 in total

Review 1.  Polycystic kidney disease.

Authors:  Patricia D Wilson
Journal:  N Engl J Med       Date:  2004-01-08       Impact factor: 91.245

Review 2.  Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases.

Authors:  Vicente E Torres; Peter C Harris
Journal:  Nat Clin Pract Nephrol       Date:  2006-01

Review 3.  Can progression of autosomal dominant or autosomal recessive polycystic kidney disease be prevented?

Authors:  I D Davis; K MacRae Dell; W E Sweeney; E D Avner
Journal:  Semin Nephrol       Date:  2001-09       Impact factor: 5.299

4.  PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.

Authors:  Luiz F Onuchic; Laszlo Furu; Yasuyuki Nagasawa; Xiaoying Hou; Thomas Eggermann; Zhiyong Ren; Carsten Bergmann; Jan Senderek; Ernie Esquivel; Raoul Zeltner; Sabine Rudnik-Schöneborn; Michael Mrug; William Sweeney; Ellis D Avner; Klaus Zerres; Lisa M Guay-Woodford; Stefan Somlo; Gregory G Germino
Journal:  Am J Hum Genet       Date:  2002-03-15       Impact factor: 11.025

5.  Autosomal recessive polycystic kidney disease: outcomes from a single-center experience.

Authors:  Rhona Capisonda; Veronique Phan; Jeffrey Traubuci; Alan Daneman; J Williamson Balfe; Lisa M Guay-Woodford
Journal:  Pediatr Nephrol       Date:  2003-01-21       Impact factor: 3.714

6.  The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area.

Authors:  Shixuan Wang; Ying Luo; Patricia D Wilson; George B Witman; Jing Zhou
Journal:  J Am Soc Nephrol       Date:  2004-03       Impact factor: 10.121

7.  EGF-related growth factors in the pathogenesis of murine ARPKD.

Authors:  Katherine MacRae Dell; Raghad Nemo; William E Sweeney; Ellis D Avner
Journal:  Kidney Int       Date:  2004-06       Impact factor: 10.612

8.  Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells.

Authors:  Surya M Nauli; Francis J Alenghat; Ying Luo; Eric Williams; Peter Vassilev; Xiaogang Li; Andrew E H Elia; Weining Lu; Edward M Brown; Stephen J Quinn; Donald E Ingber; Jing Zhou
Journal:  Nat Genet       Date:  2003-01-06       Impact factor: 38.330

9.  Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.

Authors:  Christopher J Ward; David Yuan; Tatyana V Masyuk; Xiaofang Wang; Rachaneekorn Punyashthiti; Shelly Whelan; Robert Bacallao; Roser Torra; Nicholas F LaRusso; Vicente E Torres; Peter C Harris
Journal:  Hum Mol Genet       Date:  2003-08-12       Impact factor: 6.150

Review 10.  Epidermal growth factor receptor tyrosine kinase inhibitors.

Authors:  M Ranson
Journal:  Br J Cancer       Date:  2004-06-14       Impact factor: 7.640

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  31 in total

Review 1.  Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease.

Authors:  Arvind Srinath; Benjamin L Shneider
Journal:  J Pediatr Gastroenterol Nutr       Date:  2012-05       Impact factor: 2.839

2.  Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.

Authors:  Meral Gunay-Aygun; Baris I Turkbey; Joy Bryant; Kailash T Daryanani; Maya Tuchman Gerstein; Katie Piwnica-Worms; Peter Choyke; Theo Heller; William A Gahl
Journal:  Mol Genet Metab       Date:  2011-09-08       Impact factor: 4.797

3.  Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.

Authors:  Jiwon M Lee; Yo Han Ahn; Hee Gyung Kang; I I Soo Ha; Kyoungbun Lee; Kyung Chul Moon; Joo Hoon Lee; Young Seo Park; Yong Mee Cho; Jun-Seok Bae; Nayoung K D Kim; Woong-Yang Park; Hae I I Cheong
Journal:  Pediatr Nephrol       Date:  2015-03-01       Impact factor: 3.714

Review 4.  Liver and kidney disease in ciliopathies.

Authors:  Meral Gunay-Aygun
Journal:  Am J Med Genet C Semin Med Genet       Date:  2009-11-15       Impact factor: 3.908

5.  Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.

Authors:  Meral Gunay-Aygun; Esperanza Font-Montgomery; Linda Lukose; Maya Tuchman Gerstein; Katie Piwnica-Worms; Peter Choyke; Kailash T Daryanani; Baris Turkbey; Roxanne Fischer; Isa Bernardini; Murat Sincan; Xiongce Zhao; Netanya G Sandler; Annelys Roque; Daniel C Douek; Jennifer Graf; Marjan Huizing; Joy C Bryant; Parvathi Mohan; William A Gahl; Theo Heller
Journal:  Gastroenterology       Date:  2012-10-03       Impact factor: 22.682

Review 6.  New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications.

Authors:  Grzegorz Telega; David Cronin; Ellis D Avner
Journal:  Pediatr Transplant       Date:  2013-04-17

Review 7.  Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney?

Authors:  Jayanthi Chandar; Jennifer Garcia; Lydia Jorge; Akin Tekin
Journal:  Pediatr Nephrol       Date:  2014-08-13       Impact factor: 3.714

8.  Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation.

Authors:  Xi-Hui Zhou; Zhi-Yan Hui; Yuan Li
Journal:  World J Pediatr       Date:  2013-02-07       Impact factor: 2.764

9.  Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis.

Authors:  Nehna Abdul Majeed; Esperanza Font-Montgomery; Linda Lukose; Joy Bryant; Peter Veppumthara; Peter L Choyke; Ismail B Turkbey; Theo Heller; William A Gahl; Meral Gunay-Aygun
Journal:  Mol Genet Metab       Date:  2020-09-03       Impact factor: 4.797

10.  Cyclic nucleotide signaling in polycystic kidney disease.

Authors:  Xiaofang Wang; Christopher J Ward; Peter C Harris; Vicente E Torres
Journal:  Kidney Int       Date:  2009-11-18       Impact factor: 10.612

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